HACD1 cDNA ORF clone, Homo sapiens(human)

The 3-hydroxyacyl-CoA dehydratases HACD1 and HACD2 exhibit functional redundancy and are active in a wide range of fatty acid elongation pathways.
Sawai M, Uchida Y, Ohno Y, Miyamoto M, Nishioka C, Itohara S, Sassa T, Kihara A
The Journal of biological chemistry292(37)15538-15551(2017 09)

Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.
Walmsley GL, Blot S, Venner K, Sewry C, Laporte J, Blondelle J, Barth?l?my I, Maurer M, Blanchard-Gutton N, Pilot-Storck F, Tiret L, Piercy RJ
The American journal of pathology187(2)441-456(2017 Feb)

Human recombinant cementum attachment protein (hrPTPLa/CAP) promotes hydroxyapatite crystal formation in vitro and bone healing in vivo.
Montoya G, Arenas J, Romo E, Zeichner-David M, Alvarez M, Narayanan AS, Vel?zquez U, Mercado G, Arzate H
Bone69154-64(2014 Dec)

Congenital myopathy is caused by mutation of HACD1.
Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R
Human molecular genetics22(25)5229-36(2013 Dec)

Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.
Maurer M, Mary J, Guillaud L, Fender M, Pel? M, Bilzer T, Olby N, Penderis J, Shelton GD, Panthier JJ, Thibaud JL, Barth?l?my I, Aubin-Houzelstein G, Blot S, Hitte C, Tiret L
PloS one7(10)e46408(2012)

Mutations in HACD1 can result in myopathies in humans; knockout mice lacking Hacd1 develop myopathic phenotypes. Data (including data from studies using knockout mice and cultured cells from knockout mice) suggest that HACD1 and HACD2 exhibit overlapping substrate specificities and thus appear to represent redundant activities in skeletal muscle.
Title: The 3-hydroxyacyl-CoA dehydratases HACD1 and HACD2 exhibit functional redundancy and are active in a wide range of fatty acid elongation pathways.

Longitudinal analyses in myopathic Labrador retrievers reveal several membrane-associated defects, including ultrastructural triads dysmorphogenesis and mitochondrial mislocalization in Labrador retrievers with deficiencies in the canine HACD1 gene.
Title: Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.

These data indicate that HACD1 is necessary for muscle function.
Title: Congenital myopathy is caused by mutation of HACD1.

PTPLA-CAP expression was limited to cementum cells; promoted gingival fibroblast attachment. PTPLA-CAP is splice variant of PTPLA, and that, in the periodontium, cementum and cementum cells express this variant.
Title: Isolation of protein-tyrosine phosphatase-like member-a variant from cementum.

Labrador retrievers carrying two copies of a unique canine HACD1 loss-of-function allele that recently disseminated worldwide, are all affected by a congenital myopathy, confirming its role in muscle development.
Title: Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.